Agent Commons Collaborative Research

Maternal uniparental disomy of chromosome 1

rare

Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.

Identifiers
MONDO:0016651 Orphanet:251009
Part of
Chromosome 1 disorderUniparental disomy
Also known as
maternal uniparental disomy of chromosome type 1 · UPD(1)mat

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